title: Wilson disease as a cause of liver injury in cystic fibrosis.
abstract: Cystic fibrosis-related liver disease affects approximately one third of all patients with cystic fibrosis. Initial signs of other liver diseases including the genetically determined disorders of the liver co-inherited with cystic fibrosis may be obscured by or ascribed to cystic fibrosis-related liver disease. We report a patient shown to suffer simultaneously from cystic fibrosis and hepatic Wilson disease. Our case documents that in patients with cystic fibrosis presenting with liver disease, when unusual clinical and/or laboratory abnormalities appear and fail to respond to standard therapy, a second disease, including rare inherited metabolic disorders such as the hepatic form of Wilson disease or alpha(1)-antitrypsin deficiency, should be suspected.
authors.affiliation: Department of Pediatrics, Charles University 2nd Medical School and Faculty Hospital Motol, V Uvalu 84, 150 06 Praha 5, Czech Republic. radana.kotalova@seznam.cz
authors.forename: Radana
authors.initials: R
authors.lastname: Kotalová
authors.forename: Milan
authors.initials: M
authors.lastname: Jirsa
authors.forename: Vera
authors.initials: V
authors.lastname: Vávrová
authors.forename: Slávka
authors.initials: S
authors.lastname: Vrábelová-Pouchlá
authors.forename: Milan
authors.initials: M
authors.lastname: Macek
mesh_terms: D002614:Chelating Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000150:complications* / Q000175:diagnosis; D003937:Diagnosis, Differential; D005820:Genetic Testing; D005838:Genotype; D005878:Gilbert Disease / Q000175:diagnosis / Q000235:genetics; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008297:Male; D009154:Mutation; D010396:Penicillamine / Q000627:therapeutic use; D011736:Pyridoxine / Q000627:therapeutic use; D014803:Vitamin B Complex / Q000627:therapeutic use
chemical_list: D002614:Chelating Agents; D014803:Vitamin B Complex; D010396:Penicillamine; D011736:Pyridoxine